V29A (p.Val29Ala) variant of CHAMP1 (Q96JM3)
V29A (p.Val29Ala) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- gnomAD 13-114323928-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the HGDP:MBUTI population (allele frequency 0.042)
- Structural context available
- Literature evidence available