M41V (p.Met41Val) variant of RP2 (Protein XRP2)
M41V (p.Met41Val) in RP2 (Protein XRP2) 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 0.31 / 1. The record also includes population frequency data and structural context.
M41V (p.Met41Val) variant details
- p.Met41Val
- rs141869514
- ClinGen CA10394180
- ClinVar RCV001917570
- ESP rs141869514
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.28
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available