A120V (p.Ala120Val) variant of PGR (Progesterone receptor)
A120V (p.Ala120Val) in PGR (Progesterone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A120V (p.Ala120Val) variant details
- p.Ala120Val
- rs11571144
- ClinGen CA6243918
- cosmic curated COSV54800
- ClinVar RCV000880422
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.10
- CADD 16.60
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs11571144)
- UniProt: Benign (in dbSNP:rs11571144)
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available
- Literature evidence available