H16P (p.His16Pro) variant of ESR1 (Estrogen receptor)
H16P (p.His16Pro) in ESR1 (Estrogen receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H16P (p.His16Pro) variant details
- p.His16Pro
- gnomAD 6-151807959-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.76
- MetaLR 0.84
- MetaSVM 0.80
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available